Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 484 | 83 | 387 |
| Samples | 271 | 59 | 205 |
| Peptides | 201 | 41 | 164 |
Function
ALDH2 · Aldehyde dehydrogenase 2 family member
This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016].
Isoforms & Proteins
2 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 198 amino-acid changes on canonical ENST00000261733 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in ALDH2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ALDH2 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Glioblastoma | 4/98 4% | 0/0 0% |
| Chondrosarcoma | 2/14 14% | 0/75 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Melanoma | 7/210 3% | 36/1899 2% |
| Endometrial Carcinoma | 4/42 10% | 9/612 1% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Cervical Carcinoma | 2/35 6% | 5/422 1% |
| Colorectal Carcinoma | 5/143 4% | 35/3239 1% |
| Non-Small Cell Lung Carcinoma | 9/304 3% | 9/1390 1% |
| Germ Cell Tumour | 2/25 8% | 0/169 0% |
| Gastric Carcinoma | 2/74 3% | 16/1809 1% |
| Adrenocortical Carcinoma | 1/3 33% | 0/112 0% |
| Biliary Tract Carcinoma | 1/54 2% | 7/950 1% |
| Bladder Carcinoma | 2/58 3% | 6/956 1% |
| Other Sarcomas | 2/69 3% | 4/699 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Hodgkins Lymphoma | 0/16 0% | 1/122 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 6/810 1% |
| Non-Cancerous | 0/104 0% | 5/830 1% |
| Esophageal Carcinoma | 0/23 0% | 4/769 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 13/2550 1% |
| Glioma | 3/52 6% | 7/2127 0% |
| Other Solid Cancers | 3/94 3% | 4/1515 0% |
| Mesothelioma | 0/62 0% | 1/165 1% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Kidney Carcinoma | 0/85 0% | 8/1862 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Plasma Cell Myeloma | 0/44 0% | 1/305 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
Mutation Distribution
Where ALDH2 is mutated · all tissues, split by cell line vs tissue
How many mutations in ALDH2 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 484 mutations in ALDH2
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|